title: Genetic etiology and evaluation of sudden cardiac death.
abstract: A wide range of inherited syndromes can result in ventricular arrhythmias and sudden cardiac death (SCD). The natural histories of inherited arrhythmia syndromes are highly variable and current risk stratification techniques are limited. Thus, the management of these conditions can be difficult and often involves a combination of risk assessment, lifestyle modification, cardiac interventions, counselling, and family screening. Recent advances in high throughput sequencing have enabled routine testing in patients with a high clinical index of suspicion for an inherited arrhythmia condition, and cascade screening in relatives of mutation carriers. Given the complexity in screening and data interpretation that has been introduced by recent genomic advances, individuals with inherited arrhythmia syndromes are encouraged to seek care at specialized centers with cardiovascular genetics expertise. In this review, we discuss the etiologies of SCD syndromes and discuss strategies for the evaluation of patients at risk for SCD with a focus on the role of genetic testing and family screening.
authors.affiliation: Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA, USA.
authors.forename: Elena
authors.initials: E
authors.lastname: Dolmatova
authors.forename: Saagar
authors.initials: S
authors.lastname: Mahida
authors.forename: Patrick T
authors.initials: PT
authors.lastname: Ellinor
authors.forename: Steven A
authors.initials: SA
authors.lastname: Lubitz
mesh_terms: D001145:Arrhythmias, Cardiac / Q000150:complications / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000235:genetics; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D018570:Risk Assessment / Q000379:methods